N4BP3[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	LOC129995359, LOC129995360 +386 more	Copy number loss	See cases	GPathogenic
Select item 58122	GRCh38/hg38 5q35.2-35.3(chr5:175851047-178365049)x3	FAM153A, FAM153B +176 more	Copy number gain	See cases	GPathogenic
Select item 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	See cases	GPathogenic
Select item 153772	GRCh38/hg38 5q35.2-35.3(chr5:176291838-178662699)x1	ARL10, B4GALT7 +172 more	Copy number loss	See cases	GPathogenic
Select item 154581	GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1	ADAMTS2, B4GALT7 +325 more	Copy number loss	See cases	GPathogenic
Select item 151624	GRCh38/hg38 5q35.3(chr5:178021540-178160440)x3	LOC116158535, LOC121740634 +12 more	Copy number gain	See cases	GLikely benign
Select item 2331620	NM_015111.2(N4BP3):c.5C>T (p.Ala2Val)	N4BP3 (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217768	NM_015111.2(N4BP3):c.61C>T (p.Arg21Trp)	N4BP3 (R21W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464670	NM_015111.2(N4BP3):c.103G>A (p.Gly35Arg)	N4BP3 (G35R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388442	NM_015111.2(N4BP3):c.109C>T (p.Arg37Trp)	N4BP3 (R37W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277391	NM_015111.2(N4BP3):c.139C>T (p.Arg47Trp)	N4BP3 (R47W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523901	NM_015111.2(N4BP3):c.157C>T (p.Arg53Cys)	N4BP3 (R53C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302031	NM_015111.2(N4BP3):c.193G>T (p.Asp65Tyr)	N4BP3 (D65Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171001	NM_015111.2(N4BP3):c.223G>A (p.Ala75Thr)	N4BP3 (A75T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393883	NM_015111.2(N4BP3):c.229C>T (p.Arg77Trp)	N4BP3 (R77W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171008	NM_015111.2(N4BP3):c.281C>T (p.Ala94Val)	N4BP3 (A94V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510341	NM_015111.2(N4BP3):c.313C>G (p.Arg105Gly)	N4BP3 (R105G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298234	NM_015111.2(N4BP3):c.314G>A (p.Arg105Gln)	N4BP3 (R105Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593132	NM_015111.2(N4BP3):c.334C>T (p.Arg112Cys)	N4BP3 (R112C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298239	NM_015111.2(N4BP3):c.343C>T (p.Pro115Ser)	N4BP3 (P115S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561854	NM_015111.2(N4BP3):c.361A>G (p.Thr121Ala)	N4BP3 (T121A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2349265	NM_015111.2(N4BP3):c.430C>T (p.Arg144Cys)	N4BP3 (R144C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171027	NM_015111.2(N4BP3):c.481G>A (p.Gly161Arg)	N4BP3 (G161R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171032	NM_015111.2(N4BP3):c.494G>C (p.Ser165Thr)	N4BP3 (S165T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298241	NM_015111.2(N4BP3):c.528C>G (p.Ser176Arg)	N4BP3 (S176R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264880	NM_015111.2(N4BP3):c.541G>T (p.Gly181Cys)	N4BP3 (G181C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212814	NM_015111.2(N4BP3):c.640C>A (p.His214Asn)	N4BP3 (H214N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526867	NM_015111.2(N4BP3):c.644T>C (p.Leu215Pro)	N4BP3 (L215P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171052	NM_015111.2(N4BP3):c.700C>G (p.Pro234Ala)	N4BP3 (P234A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603009	NM_015111.2(N4BP3):c.710T>C (p.Val237Ala)	N4BP3 (V237A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171059	NM_015111.2(N4BP3):c.740C>G (p.Pro247Arg)	N4BP3 (P247R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476282	NM_015111.2(N4BP3):c.745G>C (p.Glu249Gln)	N4BP3 (E249Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376887	NM_015111.2(N4BP3):c.772A>G (p.Met258Val)	N4BP3 (M258V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3171069	NM_015111.2(N4BP3):c.790G>A (p.Glu264Lys)	N4BP3 (E264K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369415	NM_015111.2(N4BP3):c.827A>G (p.Glu276Gly)	N4BP3 (E276G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383685	NM_015111.2(N4BP3):c.832G>A (p.Gly278Ser)	N4BP3 (G278S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215047	NM_015111.2(N4BP3):c.847A>T (p.Thr283Ser)	N4BP3 (T283S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205270	NM_015111.2(N4BP3):c.854T>C (p.Val285Ala)	N4BP3 (V285A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227823	NM_015111.2(N4BP3):c.896G>A (p.Arg299His)	N4BP3 (R299H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298237	NM_015111.2(N4BP3):c.919G>A (p.Glu307Lys)	N4BP3 (E307K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207717	NM_015111.2(N4BP3):c.920A>T (p.Glu307Val)	N4BP3 (E307V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171087	NM_015111.2(N4BP3):c.928C>A (p.Gln310Lys)	N4BP3 (Q310K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390789	NM_015111.2(N4BP3):c.940C>T (p.Arg314Cys)	N4BP3 (R314C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171092	NM_015111.2(N4BP3):c.965A>T (p.Gln322Leu)	N4BP3 (Q322L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170925	NM_015111.2(N4BP3):c.1007A>T (p.Glu336Val)	N4BP3 (E336V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170928	NM_015111.2(N4BP3):c.1012C>T (p.Arg338Trp)	N4BP3 (R338W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170932	NM_015111.2(N4BP3):c.1034C>T (p.Pro345Leu)	N4BP3 (P345L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300487	NM_015111.2(N4BP3):c.1040C>T (p.Pro347Leu)	N4BP3 (P347L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382067	NM_015111.2(N4BP3):c.1072C>G (p.Pro358Ala)	N4BP3 (P358A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514285	NM_015111.2(N4BP3):c.1081C>G (p.Arg361Gly)	N4BP3 (R361G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405158	NM_015111.2(N4BP3):c.1082G>A (p.Arg361Gln)	N4BP3 (R361Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328789	NM_015111.2(N4BP3):c.1187C>T (p.Ala396Val)	N4BP3 (A396V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170948	NM_015111.2(N4BP3):c.1193T>C (p.Ile398Thr)	N4BP3 (I398T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380008	NM_015111.2(N4BP3):c.1216C>T (p.Arg406Trp)	N4BP3 (R406W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170954	NM_015111.2(N4BP3):c.1217G>C (p.Arg406Pro)	N4BP3 (R406P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170955	NM_015111.2(N4BP3):c.1225C>T (p.Arg409Trp)	N4BP3 (R409W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383192	NM_015111.2(N4BP3):c.1249G>A (p.Ala417Thr)	N4BP3 (A417T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482673	NM_015111.2(N4BP3):c.1268G>A (p.Arg423His)	N4BP3 (R423H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609817	NM_015111.2(N4BP3):c.1270G>A (p.Glu424Lys)	N4BP3 (E424K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170969	NM_015111.2(N4BP3):c.1274C>T (p.Ala425Val)	N4BP3 (A425V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298235	NM_015111.2(N4BP3):c.1352G>A (p.Gly451Asp)	N4BP3 (G451D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332677	NM_015111.2(N4BP3):c.1358T>G (p.Leu453Arg)	N4BP3 (L453R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475070	NM_015111.2(N4BP3):c.1414C>G (p.Leu472Val)	N4BP3 (L472V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298236	NM_015111.2(N4BP3):c.1442A>C (p.Glu481Ala)	N4BP3 (E481A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237280	NM_015111.2(N4BP3):c.1468C>T (p.Arg490Trp)	N4BP3 (R490W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540255	NM_015111.2(N4BP3):c.1496G>A (p.Arg499His)	N4BP3 (R499H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312816	NM_015111.2(N4BP3):c.1585C>T (p.Arg529Trp)	N4BP3 (R529W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298238	NM_015111.2(N4BP3):c.1609C>T (p.Pro537Ser)	N4BP3 (P537S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535563	NM_015111.2(N4BP3):c.1619A>G (p.Glu540Gly)	N4BP3 (E540G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062841	GRCh37/hg19 5q35.2-35.3(chr5:176385815-178410738)x1	B4GALT7, CLK4 +33 more	Copy number loss	not specified	GPathogenic
Select item 2426362	NC_000005.9:g.(?_177419710)_(177578014_?)dup	N4BP3, NHP2 +2 more	Duplication	Dyskeratosis congenita	GUncertain significance
Select item 2425922	NC_000005.9:g.(?_175158654)_(179263593_?)dup	ADAMTS2, ARL10 +63 more	Duplication	not provided	GUncertain significance
Select item 2425705	NC_000005.9:g.(?_177031160)_(178414004_?)dup	B4GALT7, CLK4 +13 more	Duplication		GUncertain significance
Select item 1808750	GRCh37/hg19 5q35.2-35.3(chr5:176516440-177773252)x3	B4GALT7, COL23A1 +25 more	Copy number gain	not provided	GLikely pathogenic
Select item 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1340213	GRCh37/hg19 5q35.2-35.3(chr5:176497464-177776599)x3	B4GALT7, COL23A1 +25 more	Copy number gain	not provided	GLikely pathogenic
Select item 981214	GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	ADAMTS2, ARL10 +115 more	Copy number gain	5q35 microduplication syndrome	GPathogenic
Select item 979538	GRCh37/hg19 5q35.3(chr5:177383384-177926234)x3	RMND5B, N4BP3 +5 more	Copy number gain	not provided	GUncertain significance
Select item 831880	NC_000005.10:g.(?_177600191)_(178153837_?)dup	B4GALT7, FAM153A +4 more	Duplication	Dyskeratosis congenita	GUncertain significance
Select item 686512	GRCh37/hg19 5q35.3(chr5:176848982-180719789)x3	ADAMTS2, B4GALT7 +59 more	Copy number gain	not provided	GPathogenic
Select item 685882	GRCh37/hg19 5q35.3(chr5:176643613-179085551)x3	COL23A1, ADAMTS2 +36 more	Copy number gain	not provided	GUncertain significance
Select item 626286	Single allele	ADAMTS2, B4GALT7 +80 more	Duplication	not provided	GLikely pathogenic
Select item 625703	GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937)	ADAMTS2, ARL10 +90 more	Copy number gain	not provided	GPathogenic
Select item 563132	GRCh37/hg19 5q35.3(chr5:177532379-178306035)x3	CLK4, COL23A1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 563131	GRCh37/hg19 5q35.3(chr5:177114088-180719789)x1	ADAMTS2, BTNL3 +50 more	Copy number loss	not provided	GUncertain significance
Select item 563130	GRCh37/hg19 5q35.3(chr5:176918345-179061393)x1	RUFY1, TMED9 +23 more	Copy number loss	not provided	GPathogenic
Select item 443453	GRCh37/hg19 5q35.3(chr5:177535168-180719789)x3	ADAMTS2, BTNL3 +48 more	Copy number gain	See cases	GUncertain significance
Select item 443005	GRCh37/hg19 5q35.2-35.3(chr5:175570677-180719789)x1	ADAMTS2, ARL10 +86 more	Copy number loss	See cases	GPathogenic
Select item 442855	GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3	ADAMTS2, ARL10 +106 more	Copy number gain	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394684	GRCh37/hg19 5q35.3(chr5:177547218-177587441)x1	N4BP3, NHP2 +1 more	Copy number loss	See cases	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 187821	GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1	BTNL9, C5orf60 +92 more	Copy number loss	See cases	GPathogenic

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Items: 100